1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-87 10.15844/pedneurbriefs-2-11-10 Muscle Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant McArdle’s Disease http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 11 1988 01 08 2016 2 11 87 88 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. McArdle’s disease: biochemical and molecular genetic studies

Muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle’s disease) have been analyzed by gel electrophoreis (SCS-PAGE), immunoblotting, and immunotitration (ELISA) at Columbia University College of Physicians and Surgeons, New York, NY.

 Gel Electrophoreis Detectable Enzyme Protein Heterogeneity

Muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle’s disease) have been analyzed by gel electrophoreis (SCS-PAGE), immunoblotting, and immunotitration (ELISA) at Columbia University College of Physicians and Surgeons, New York, NY. The majority had no detectable enzyme protein, 6 had markedly decreased phosphorylase protein, and only 1 had a normal amount of protein. The presence or absence of enzyme protein was not correlated with the clinical presentation or muscle glycogen concentration. In 4 patients tested, messenger RNA was normal in 2, abnormally short in 1, and absent in 1, suggesting heterogeneity of the molecular lesion in McArdle’s disease. [1]

COMMENT. McArdle’s disease (muscle phosphorylase deficiency; glycogenosis type V) is manifested by exercise intolerance with myalgia, early fatigue, and muscle stiffness relieved by rest. Strenuous exercise is accompanied by acute muscle necrosis and myoglobinuria. Patients presenting in infancy or childhood may have a mild congenital muscle weakness, tiredness or poor stamina without cramps or myoglobinuria, or severe, rapidly progressive weakness soon after birth that results in respiratory failure and death in infancy. The various types of myophosphorylase protein and messenger RNA observed in the above patient population were consistent with at least 5 different mutations that give rise to McArdle’s disease.

 Servidei S Shanske S Zeviani M Lebo R Fletterick R DiMauro S McArdle’s disease: biochemical and molecular genetic studies Ann Neurol 1988 Dec 24 6 774 81 10.1016/0887-8994(88)90072-0 3207360